- Acanthocytosis with neurologic disorder
- Chorea acanthocytosis
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- Chorea refers to the involuntary jerking movements made by people with this disorder.
- People with this condition also have abnormal star-shaped red blood cells (acanthocytosis).
- Another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food.
- People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth.
- Nearly half of all people with chorea-acanthocytosis have seizures.
- Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment).
- They may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy).
- Impaired muscle and nerve functioning commonly cause speech difficulties, and can lead to an inability to speak.
- Behavioral changes are also a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself.
The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis.
- Chorea-acanthocytosis. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/chorea-acanthocytosis. Accessed 8/21/2015.
- NINDS Neuroacanthocytosis Information Page. National Institute of Neurological Disorders and Stroke (NINDS). March 16, 2009; http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm. Accessed 8/21/2015.
- Baeza AV, Dobson-Stone C, Rampoldi L, Bader B, Walker RH, Danek A, Monaco AP. Chorea-acanthocytosis. GeneReviews. January 30, 2014.; http://www.ncbi.nlm.nih.gov/books/NBK1387/. Accessed 8/21/2015.